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Details for DSG2:

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
29104714	31524751

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0323	0.003	0.036	0.001	0.0954	0.0368

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.06866	0.01292	0.03952	0.07701	0.0002781	0.1453	0.08646	0.0838	0.04435

ESP
AA	EA
0.01427	0.08589

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	2.665575	Polymorphism

DBSNP ID

1 combination linked to DSG2:

2 diseases linked to DSG2:

Hypertrophic cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy

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